Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution

	Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution
	Han, F ; Lin, B ; Xu, Q ; Shen, Y ; Wu, G
刊名	chromatographia
	1999-02-01
卷号	49 期号:3-4 页码:179-184
关键词	capillary electrophoresis phenylketonuria gene diagnosis
英文摘要	it is not possible to estimate dna fragment lengths in undenatured buffer systems by the calibrating method because a conformation problem can occasionally predominate. although some authors use urea as a denaturant to eliminate the influence of conformation on migration, they often experience the difficulty of loss of resolution. we have developed a novel sieving matrix with relatively low viscosity and good sieving ability, by which dna standard pbr322/haeiii could be separated satisfactorily. the influence of dna conformation can also be eliminated in the same system: which makes it possible to estimate the length of a dna fragment more precisely. gene diagnosis and family linkage analysis of phenylketonuria (pku) was performed as an application. a four-base-pair difference in length of the phenylalanine hydroxylase (pah) short-tandem repeat (str) alleles could be separated and identified, which paved the way for diagnosis of pku by capillary electrophoresis.
WOS标题词	science & technology ; life sciences & biomedicine ; physical sciences
类目[WOS]	biochemical research methods ; chemistry, analytical
研究领域[WOS]	biochemistry & molecular biology ; chemistry
关键词[WOS]	phenylalanine-hydroxylase gene ; dna restriction fragments ; prenatal-diagnosis ; separation ; resolution ; polymorphism ; products
收录类别	SCI
语种	英语
WOS记录号	WOS:000078752700011
公开日期	2015-11-10
内容类型	期刊论文
源URL	[http://159.226.238.44/handle/321008/138562]
专题	大连化学物理研究所_中国科学院大连化学物理研究所
作者单位	1.Chinese Acad Sci, Dalian Inst Chem Phys, Dalian 116023, Peoples R China 2.Chinese Acad Med Sci, Inst Basic Med, Beijing 100005, Peoples R China
推荐引用方式 GB/T 7714	Han, F,Lin, B,Xu, Q,et al. Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution[J]. chromatographia,1999,49(3-4):179-184.
APA	Han, F,Lin, B,Xu, Q,Shen, Y,&Wu, G.(1999).Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution.chromatographia,49(3-4),179-184.
MLA	Han, F,et al."Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution".chromatographia 49.3-4(1999):179-184.